Very late-onset limb-girdle congenital myasthenic syndrome due to GFPT1 mutation

Muscle Nerve. 2023 Sep;68(3):E32-E34. doi: 10.1002/mus.27842. Epub 2023 Jul 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) / genetics
  • Humans
  • Musculoskeletal System*
  • Mutation / genetics
  • Myasthenic Syndromes, Congenital* / genetics

Substances

  • GFPT1 protein, human
  • Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)